Ontology highlight
ABSTRACT:
SUBMITTER: Azuma Y
PROVIDER: S-EPMC5415388 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Azuma Yoshiteru Y Töpf Ana A Evangelista Teresinha T Lorenzoni Paulo José PJ Roos Andreas A Viana Pedro P Inagaki Hidehito H Kurahashi Hiroki H Lochmüller Hanns H
Neurology. Genetics 20170503 3
<h4>Objective</h4>To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS).<h4>Methods</h4>Candidate gene screening and WGS analysis were performed in the case. Allele-specific PCR was subsequently performed to confirm the copy number variation (CNV) that was suspected from the WGS results.<h4>Results</h4>In addition to the previously reported frameshift mutation ...[more]